Canonical Allele Identifier: CA392816810

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.64156740T>G , CM000677.2:g.64156740T>G GRCh38
NC_000015.9:g.64448939T>G , CM000677.1:g.64448939T>G GRCh37
NC_000015.8:g.62235992T>G NCBI36
NG_012979.1:g.11416A>C , LRG_10:g.11416A>C
NG_033071.1:g.10024T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300026.4:c.513A>C (PPIB) MANE Select ENSP00000300026.4:p.Lys171Asn
ENST00000325881.9:c.*2232T>G (SNX22) MANE Select ENSP00000323435.4:n.*2232T>G
ENST00000561048.2:n.3740A>C (PPIB)
ENST00000680158.1:c.*186A>C (PPIB) ENSP00000504873.1:n.*186A>C
ENST00000680343.1:n.467A>C (PPIB)
ENST00000681397.1:c.513A>C (PPIB) ENSP00000506584.1:p.Lys171Asn
ENST00000681658.1:c.408A>C (PPIB) ENSP00000505431.1:p.Lys136Asn
ENST00000300026.3:c.513A>C (PPIB) ENSP00000300026.3:p.Lys171Asn
ENST00000325881.8:c.*2232T>G (SNX22) ENSP00000323435.4:n.*2232T>G
ENST00000557789.5:n.2972T>G (SNX22)
ENST00000560997.1:n.2627T>G (SNX22)
NM_000942.4:c.513A>C , LRG_10t1:c.513A>C (PPIB) NP_000933.1:p.Lys171Asn
NM_024798.2:c.*2232T>G (SNX22) NP_079074.2:n.*2232T>G
NR_073534.1:n.2920T>G (SNX22)
XM_017022581.1:c.*2232T>G (SNX22) XP_016878070.1:n.*2232T>G
NM_024798.3:c.*2232T>G (SNX22) MANE Select NP_079074.2:n.*2232T>G
NM_000942.5:c.513A>C (PPIB) MANE Select NP_000933.1:p.Lys171Asn
NR_073534.2:n.2906T>G (SNX22)